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Variant (rsID / SNP)

rs143030960

SUCLG1

rs143030960 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUCLG1. Location: chromosome 2, position 84,670,490. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SUCLG1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:84670490
Cytoband
2p11.2
HGVS
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp)
Allele change
Missense_G79D

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome|Mitochondrial DNA depletion syndrome 9

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.